Kabuki syndrome 2015-11-18T16:21:35Z UMLS_CUI:C0796004 disease_ontology OMIM:300867 MESH:C537705 ORDO:2322 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. GARD:6810 DOID:0060473 KMS Niikawa-Kuroki syndrome Kabuki make up syndrome OMIM:147920 elvira NCI:C124837 syndrome